Summary?
基因 7428
Symbol VHL
同义词 HRCA1|RCA1|VHL1|pVHL
描述 von Hippel-Lindau肿瘤抑制剂
参考 MIM:608537|HGNC:HGNC:12687|HPRD:01905|
基因type protein-coding
地图位置 3P25.3
Pascal P值 0.169
Sherlock P值 0.878
Fetal beta 1.691
eGene 迈尔斯的顺式和反式

基因in Data Sources
基因set name 基因组方法 描述 Info
简历:PGCNP 全基因组协会研究 GWAS
PMID:cooccur 高通量文献搜索 系统搜索PubMed的基因co-occurring with SCZ keywords. A total of 3027 genes were included.
Literature 高通量文献搜索 Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenias Click to show details
网络 Shortest path distance of core genes in the Human protein-protein interaction network PPI网络中最短路径的贡献:0.1204

Section I. Genetics and epigenetics annotation

@EQTL注释

SNP ID Chromosome Position eGene 基因Entrez ID PVALUE qvalue TSS distance eQTL type
RS10497672 0 VHL 7428 0.17 trans
RS11230726 Chr11 61275103 VHL 7428 0.13 trans

Section II. Transcriptome annotation

基因ral gene expression (GTEx)

无法使用

Devlopment期间的基因表达(BrainCloud)

Footnote:
总共绘制了269个时间点,n = 38个胎儿样品(x = 1:38)。每个三角形代表一个时间点。

基因expression of temporal and spatial changes (BrainSpan)

Footnote:
SC:亚皮质区域;SM:感觉运动区域;FC:额叶皮层;和TP:颞顶皮层
ST1:胎儿(13-26个概念后周),ST2:婴儿早期至童年(4个月至11年)和ST3:青春期至成年期(13-23年)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

前10个积极共表达的基因
基因 皮尔逊的相关性 斯皮尔曼的相关性
AC009041.1 0.70 0.53
TRIM17 0.69 0.79
AC009041.3 0.66 0.50
CORT 0.65 0.73
NPAS2 0.65 0.73
TTC22 0.65 0.69
TNK1 0.64 0.24
ANKRD55 0.63 0.77
FHOD1 0.63 0.54
APITD1 0.63 0.73
前10个负共表达基因
基因 皮尔逊的相关性 斯皮尔曼的相关性
HEBP2 -0.36 -0.61
CSRP2 -0.32 -0.48
METRNL -0.31 -0.47
COTL1 -0.31 -0.25
SNX7 -0.31 -0.26
RNF182 -0.31 -0.37
CBS -0.30 -0.32
NEUROD6 -0.30 -0.17
SLA -0.30 -0.11
klhl1 -0.30 -0.10

Section III. Gene Ontology annotation

Molecular function 去的术语 Evidence Neuro keywords PubMed ID
去:0008134 transcription factor binding 助教 7660122
生物过程 去的术语 Evidence Neuro keywords PubMed ID
GO:0000122 negative regulation of transcription from RNA polymerase II promoter 助教 7660122
GO:0000902 cell morphogenesis NAS 12169691
去:0001525 angiogenesis IEA -
GO:0006508 蛋白水解 助教 10353251
GO:0006511 泛素依赖性蛋白质分解代谢过程 IEA -
GO:0006950 response to stress NAS 12169691
去:0008285 细胞增殖的阴性调节 助教 7660130
GO:0006916 anti-apoptosis NAS 12169691
GO:0016567 蛋白质泛素化 IMP 12169691
GO:0050821 蛋白质稳定 NAS 12169691
去:0030163 蛋白质分解代谢过程 IEA -
去:0030198 细胞外基质组织 IEA -
GO:0045786 negative regulation of cell cycle IEA -
GO:0043534 blood vessel endothelial cell migration IEA -
GO:0045597 positive regulation of cell differentiation NAS 12169691
GO:0045449 regulation of transcription IMP 15824735
细胞分量 去的术语 Evidence Neuro keywords PubMed ID
GO:0005829 cytosol 助教 7604013
GO:0005634 助教 7604013
GO:0005737 cytoplasm IEA -
GO:0005739 线粒体 NAS 12169691
GO:0005783 endoplasmic reticulum NAS 12169691
去:0016020 IEA -

Section IV. Protein-protein interaction annotation

Interactors Aliases B Official full name B Experimental Source PubMed ID
aprt amp |DKFZP686D13177 |MGC125856 |MGC125857 |MGC129961 腺嘌呤磷脂基转移酶 Affinity Capture-MS BioGRID 17353931
ATXN2 atx2 |FLJ46772 |sca2 |TNRC13 ataxin 2 Affinity Capture-MS BioGRID 17353931
CAB39 CGI-66 | FLJ22682 | MO25 钙结合蛋白39 Affinity Capture-MS BioGRID 17353931
CCDC59 BR22 |DKFZP686K1021 |FLJ10294 |HSPC128 |TAP26 coiled-coil domain containing 59 Affinity Capture-MS BioGRID 17353931
CCDC82 FLJ23518 |HSPC048 包含82 Affinity Capture-MS BioGRID 17353931
CDK2 p33(CDK2) 细胞周期蛋白依赖性激酶2 Affinity Capture-MS BioGRID 17353931
CDO1 - 半胱氨酸二氧酶,I型 Affinity Capture-MS BioGRID 17353931
CHMP2B chmp2.5 |DKFZP564O123 |DMT1 |VPS2-2 |VPS2B chromatin modifying protein 2B Affinity Capture-MS BioGRID 17353931
HCNTF ciliary neurotrophic factor Affinity Capture-MS BioGRID 17353931
CSTB CST6 |EPM1 |PME |STFB cystatin B (stefin B) Affinity Capture-MS BioGRID 17353931
CSTF3 CSTF-77 |MGC117398 |MGC43001 |MGC75122 切割刺激因子,3'Pre-RNA,亚基3,77KDA Affinity Capture-MS BioGRID 17353931
CUL2 MGC131970 cullin 2 Affinity Capture-MS
Affinity Capture-Western
Reconstituted Complex
BioGRID 10587522|11384984
|17353931
CUL5 VACM-1 | VACM1 cullin 5 Reconstituted Complex BioGRID 11384984
EPAS1 ecyt4 |hif2a |HLF |mop2 |PASD2 内皮PAS域蛋白1 The von Hippel-Lindau tumor suppressor protein (pVHL) interacts with Hypoxia inducible factor-2-alpha (HIF-2 alpha) BIND 10823831
FLNA ABP-280 |ABPX |DKFZP434P031 |fln |fln1 |FMD |MNS |NHBP |OPD |OPD1 | OPD2 filamin A, alpha (actin binding protein 280) The von Hippel-Lindau tumor suppressor protein (pVHL) interacts with FLNA . BIND 12169691
FLNA ABP-280 |ABPX |DKFZP434P031 |fln |fln1 |FMD |MNS |NHBP |OPD |OPD1 | OPD2 filamin A, alpha (actin binding protein 280) - HPRD,Biogrid 8674032|12169691
FN1 CIG |DKFZP686F10164 |DKFZP686H0342 |DKFZP686I1370 |DKFZP686O13149 |ed-b |Finc |fn |fnz |gfnd | GFND2 | LETS | MSF fibronectin 1 pVHL交互with fibronectin 1 BIND 10823831
FN1 CIG |DKFZP686F10164 |DKFZP686H0342 |DKFZP686I1370 |DKFZP686O13149 |ed-b |Finc |fn |fnz |gfnd | GFND2 | LETS | MSF fibronectin 1 - HPRD,Biogrid 9651579
FSCN1 FLJ38511 | SNL | p55 FASTIN同源物1,肌动蛋白捆绑蛋白(purvuratus strongylocentrotus) Affinity Capture-MS BioGRID 17353931
有1 透明质酸合酶1 Affinity Capture-MS BioGRID 17353931
HDAC1 DKFZP686H12203 |gon-10 |HD1 |RPD3 |RPD3L1 组蛋白脱乙酰基酶1 Reconstituted Complex BioGRID 11641274
HDAC2 RPD3 |YAF1 组蛋白脱乙酰基酶2 Reconstituted Complex BioGRID 11641274
HDAC3 HD3 | RPD3 | RPD3-2 组蛋白脱乙酰基酶3 Reconstituted Complex BioGRID 11641274
HIF1A HIF-1Alpha |HIF1 |hif1-alpha |mop1 |PASD8 hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) Hydroxylated HIF-1 alpha interacts with VHL. This interaction was modeled on a demonstrated interaction between human hydroxylated HIF-1 alpha and an unspecified isoform of VHL from an unspecified species. BIND 15721254
HIF1A HIF-1Alpha |HIF1 |hif1-alpha |mop1 |PASD8 hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) The von Hippel-Lindau tumor suppressor protein (pVHL) interacts with Hypoxia inducible factor-alpha (HIF-1 alpha) BIND 10823831
HIF1A HIF-1Alpha |HIF1 |hif1-alpha |mop1 |PASD8 hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) - HPRD 11504942
HIF1A HIF-1Alpha |HIF1 |hif1-alpha |mop1 |PASD8 hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) HIF1A (HIF-1alpha) interacts with VHL. BIND 15750626
HIF1A HIF-1Alpha |HIF1 |hif1-alpha |mop1 |PASD8 hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) - HPRD,Biogrid 10944113
HIF1AN DKFZP762F1811 |fih1 |FLJ20615 |FLJ22027 低氧诱导因子1,α亚基抑制剂 Reconstituted Complex BioGRID 11641274
HIF3A HIF-3A |HIF-3A2 |HIF-3A4 |IPA |MOP7 |Pasd7 |Bhlhe17 hypoxia inducible factor 3, alpha subunit - HPRD 12538644
Hist1H2BC H2B.1 |H2B/L |H2BFL |MGC104246 |DJ221C16.3 histone cluster 1, H2bc Affinity Capture-MS BioGRID 17353931
HNRNPA2B1 DKFZP779B0244 |FLJ22720 |hnrnpa2 |HNRNPB1 |HNRPA2 |HNRPA2B1 |HNRPB1 |RNPA2 |SNRPB1 异质核核糖核蛋白A2/B1 - HPRD,Biogrid 11517223
IARS FLJ20736 | IARS1 | ILRS | PRO0785 isoleucyl-tRNA synthetase Affinity Capture-MS BioGRID 17353931
impdh2 impd2 |impdh-ii IMP(肌苷一磷酸)脱氢酶2 Affinity Capture-MS BioGRID 17353931
JMJD1C DKFZP761F0118 |FLJ14374 |KIAA1380 |RP11-10C13.2 |Trip8 jumonji domain containing 1C Affinity Capture-MS BioGRID 17353931
KNTC1 FLJ36151 | KIAA0166 | ROD 动力学相关1 Affinity Capture-MS BioGRID 17353931
MCC DKFZP762O1615 |FLJ38893 |FLJ46755 |MCC1 mutated in colorectal cancers Affinity Capture-MS BioGRID 17353931
MOBKL3 2C4D | CGI-95 | MGC12264 | MOB1 | MOB3 | PREI3 MOB1,MPS一个粘合激酶激活剂样3(酵母) Affinity Capture-MS BioGRID 17353931
MRCL3 MLCB |MRLC3 myosin regulatory light chain MRCL3 Affinity Capture-MS BioGRID 17353931
nedd8 FLJ43224 |MGC104393 |MGC125896 |MGC125897 |NEDD-8 neural precursor cell expressed, developmentally down-regulated 8 Affinity Capture-MS BioGRID 17353931
PAPSS2 atpsk2 |SK2 3'-磷酸腺苷5'-磷脂合酶2 Affinity Capture-MS BioGRID 17353931
PCMT1 - 蛋白质-L-异天冬氨酸(D-天冬氨酸)O-甲基转移酶 Affinity Capture-MS BioGRID 17353931
PFAS FGAMS | FGARAT | KIAA0361 | PURL phosphoribosylformylglycinamidine synthase Affinity Capture-MS BioGRID 17353931
PHF17 FLJ22479 | JADE1 | KIAA1807 PhD手指蛋白17 The von Hippel-Lindau tumor suppressor protein (pVHL) interacts with Jade-1 BIND 12169691
PHF17 FLJ22479 | JADE1 | KIAA1807 PhD手指蛋白17 - HPRD,Biogrid 12169691
PIN1 DOD | UBL5 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 Affinity Capture-MS BioGRID 17353931
PKD1L3 - 多囊肾脏疾病1类样3 Affinity Capture-MS BioGRID 17353931
PPIB CYP-S1 |CYPB |MGC14109 |MGC2224 |scylp peptidylprolyl isomerase B (cyclophilin B) Affinity Capture-MS BioGRID 17353931
PSMB1 FLJ25321 |HC5 |KIAA1838 |PMSB1 |PSC5 proteasome (prosome, macropain) subunit, beta type, 1 Affinity Capture-MS BioGRID 17353931
PSMB3 HC10-II | MGC4147 proteasome (prosome, macropain) subunit, beta type, 3 Affinity Capture-MS BioGRID 17353931
PSMC3 MGC8487 | TBP1 蛋白酶体(Prosome,大蛋白)26S亚基,ATPase,3 - HPRD,Biogrid 14556007
PSMD13 HSPC027 | Rpn9 | S11 | p40.5 蛋白酶体(Prosome,大蛋白)26S亚基,非ATPase,13 Affinity Capture-MS BioGRID 17353931
RAB1B - RAB1B, member RAS oncogene family Affinity Capture-MS BioGRID 17353931
rasgrp1 CALDAG-GEFI | CALDAG-GEFII | MGC129998 | MGC129999 | RASGRP | V | hRasGRP1 Ras鸟甘释放蛋白1(钙和DAG调节) Affinity Capture-MS BioGRID 17353931
RBX1 BA554C12.1 | MGC13357 | MGC1481 | RNF75 | ROC1 ring-box 1 Affinity Capture-MS BioGRID 17353931
Rhoc arh9 |ARHC |H9 |MGC1448 |MGC61427 |RHOH9 RAS同源基因家族,成员C Affinity Capture-MS BioGRID 17353931
RNF139 HRCA1 | MGC31961 | RCA1 | TRC8 ring finger protein 139 - HPRD 12032852
RPA3 repa3 replication protein A3, 14kDa Affinity Capture-MS BioGRID 17353931
RPS9 - 核糖体蛋白S9 Affinity Capture-MS BioGRID 17353931
STK16 FLJ39635 | KRCT | MPSK | PKL12 | TSF1 serine/threonine kinase 16 Affinity Capture-MS BioGRID 17353931
tagln2 HA1756 | KIAA0120 transgelin 2 Affinity Capture-MS BioGRID 17353931
TARS MGC9344 | ThrRS Threonyl-tRNA合成酶 Affinity Capture-MS BioGRID 17353931
TCEB1 SIII transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) Affinity Capture-MS
Co-crystal Structure
Reconstituted Complex
Two-hybrid
BioGRID 8674032|10587522
|11739384|12004076
|17353931
TCEB1 SIII transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) - HPRD 7660130|10449727
|12004076
TCEB2 ELOB | SIII transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) Affinity Capture-MS
Affinity Capture-Western
Co-crystal Structure
Reconstituted Complex
BioGRID 10587522|12004076
|17353931
TGFB1I1 ARA55 |HIC-5 |Hic5 |TSC-5 transforming growth factor beta 1 induced transcript 1 Affinity Capture-MS BioGRID 17353931
TPT1 FLJ27337 |HRF |TCTP |P02 tumor protein, translationally-controlled 1 Affinity Capture-MS BioGRID 17353931
Trim28 FLJ29029 |kap1 |RNF96 |TF1B |tif1b tripartite motif-containing 28 Reconstituted Complex BioGRID 12682018
TXN DKFZp686B1993 | MGC61975 | TRX | TRX1 thioredoxin Affinity Capture-MS BioGRID 17353931
USP33 KIAA1097 | MGC16868 | VDU1 泛素特异性肽酶33 pVHL交互with VDU1-type II. BIND 11739384
USP33 KIAA1097 | MGC16868 | VDU1 泛素特异性肽酶33 - HPRD,Biogrid 11739384
VBP1 PFD3 |pfdn3 |VBP-1 von Hippel-Lindau binding protein 1 Affinity Capture-Western
Two-hybrid
BioGRID 8674032|12169691
VBP1 PFD3 |pfdn3 |VBP-1 von Hippel-Lindau binding protein 1 The von Hippel-Lindau tumor suppressor protein (pVHL) interacts with VBP1. BIND 12169691
ZNF197 D3S1363E |P18 |Vhlak |ZKSCAN9 |Znf166 |ZNF20 锌指蛋白197 Affinity Capture-Western
Reconstituted Complex
Two-hybrid
BioGRID 12682018


Section V. Pathway annotation

Pathway name Pathway size #szgr 2.0基因 Info
KEGG泛素介导的蛋白水解 138 98 All SZGR 2.0 genes in this pathway
KEGG PATHWAYS IN CANCER 328 259 All SZGR 2.0 genes in this pathway
KEGG RENAL CELL CARCINOMA 70 60 All SZGR 2.0 genes in this pathway
BIOCARTA HIF PATHWAY 15 12 All SZGR 2.0 genes in this pathway
BIOCARTA VEGF PATHWAY 29 18 All SZGR 2.0 genes in this pathway
PID HIF2PATHWAY 34 29 All SZGR 2.0 genes in this pathway
PID HIF1A PATHWAY 19 12 All SZGR 2.0 genes in this pathway
REACTOME REGULATION OF HYPOXIA INDUCIBLE FACTOR HIF BY OXYGEN 25 17 All SZGR 2.0 genes in this pathway
反应组氧依赖性脯氨酸羟基诱导因子α的羟基化 18 12 All SZGR 2.0 genes in this pathway
Reactome免疫系统 933 616 All SZGR 2.0 genes in this pathway
Reactome适应性免疫系统 539 350 All SZGR 2.0 genes in this pathway
Reactome I类MHC介导的抗原加工表现 251 156 All SZGR 2.0 genes in this pathway
Reactome抗原加工泛素化蛋白酶体降解 212 129 All SZGR 2.0 genes in this pathway
NOJIMA SFRP2 TARGETS UP 31 23 All SZGR 2.0 genes in this pathway
Darwiche皮肤肿瘤启动子DN 185 115 All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK LOW DN 165 107 All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK HIGH UP 147 101 All SZGR 2.0 genes in this pathway
darwiche鳞状细胞癌 146 104 All SZGR 2.0 genes in this pathway
lastowska神经母细胞瘤副本编号dn 800 473 All SZGR 2.0 genes in this pathway
Rashi对电离辐射5的响应5 147 89 All SZGR 2.0 genes in this pathway
HERNANDEZ ABERRANT MITOSIS BY DOCETACEL 2NM UP 81 57 All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK HIGH VS LOW UP 6 6 All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 1652 1023 All SZGR 2.0 genes in this pathway
PUJANA ATM PCC NETWORK 1442 892 All SZGR 2.0 genes in this pathway
GROSS HYPOXIA VIA HIF1A DN 110 78 All SZGR 2.0 genes in this pathway
通过ELK3和HIF1A的总缺氧 142 104 All SZGR 2.0 genes in this pathway
LOPEZ MBD TARGETS 957 597 All SZGR 2.0 genes in this pathway
里克曼转移 344 180 All SZGR 2.0 genes in this pathway
BENPORATH MYC TARGETS WITH EBOX 230 156 All SZGR 2.0 genes in this pathway
FERNANDEZ BOUND BY MYC 182 116 All SZGR 2.0 genes in this pathway
DORSAM HOXA9靶向DN 32 22 All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP 323 240 All SZGR 2.0 genes in this pathway
DANG REGULATED BY MYC DN 253 192 All SZGR 2.0 genes in this pathway
DANG MYC TARGETS DN 31 25 All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103 714 All SZGR 2.0 genes in this pathway
QI HYPOXIA 140 96 All SZGR 2.0 genes in this pathway